Alternative titles; symbols
HGNC Approved Gene Symbol: POMT1
SNOMEDCT: 720523006;
Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38) : 9:131,502,918-131,523,799 (from NCBI)
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 9q34.13 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 | Autosomal recessive | 3 |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 | 613155 | Autosomal recessive | 3 | |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 | Autosomal recessive | 3 |
The POMT1 gene encodes protein O-mannosyltransferase, an enzyme that catalyzes O-mannosylation of proteins, an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which, when mutated, causes defects in myogenesis and muscle structure (Jurado et al., 1999).
Using homology with Drosophila rt, Jurado et al. (1999) identified an EST for POMT1. By 5-prime cDNA walking performed by vector/insert PCR, and by anchor PCR of fetal brain RNA, they cloned the full-length POMT1 cDNA. The deduced 725-amino acid protein has a calculated molecular mass of about 82.5 kD. POMT1 contains 7 to 12 putative transmembrane regions and a C-terminal ER membrane retention signal. POMT1 shares 40% identity with rt, and it averages 54% similarity with the yeast Pmts. Northern blot analysis revealed a diffuse band of 3.1 to 3.2 kb in all tissues tested, with slightly stronger expression in skeletal muscle and heart. RNA dot blot analysis revealed ubiquitous expression, with maximum levels in testis and high levels in fetal brain and pituitary. By this method, expression in skeletal muscle and heart was not significantly higher than expression in other tissues. RT-PCR revealed several mRNA splice variants. Southern blot analysis indicated Pomt1 expression in all mammalian DNAs tested, as well as weak but specific signals in bird, reptile, and amphibian DNAs; no signal was detected in fish or plant DNAs.
Jurado et al. (1999) determined that the POMT1 gene contains 20 exons and spans about 20 kb. The initiator ATG is located in exon 2. There are a variable number of 17- to 19-nucleotide tandem repeats within intron 13. Jurado et al. (1999) identified 8 different allelic variants carrying 36 to 56 repeats within normal chromosomes. The 56-repeat allele was the most frequent. Intron 2 also contains a (CA)n microsatellite.
By somatic cell hybrid analysis, radiation hybrid analysis, and linkage analysis, Jurado et al. (1999) mapped the POMT1 gene to chromosome 9q34.1. The POMT1 locus is flanked by markers D9S260 and D9S7293 on 9q34 (Beltran-Valero de Bernabe et al., 2002).
Mutation in the POMT1 gene can cause 3 different forms of muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A1; MDDGA1, 236670), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with impaired intellectual development (type B1; MDDGB1; 613115); and a milder limb-girdle form (type C1; MDDGC1; 609308), previously designated LGMD2K (LGMDR11).
Beltran-Valero de Bernabe et al. (2002) identified several families in which Walker-Warburg syndrome (MDDGA1; 236670), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities, was caused by mutation in the POMT1 gene (see 607423.0001-607423.0003).
In a Japanese boy with Walker-Warburg syndrome, Kim et al. (2004) identified a homozygous 3-bp deletion in the POMT1 gene (607423.0004).
In 5 unrelated Turkish patients with autosomal recessive limb-girdle muscular dystrophy and mental retardation, but without structural brain abnormalities (MDDGC1; 609308), Balci et al. (2005) identified a homozygous founder mutation in the POMT1 gene (607423.0005).
Van Reeuwijk et al. (2006) identified compound heterozygous mutations in the POMT1 gene (see, e.g., 607423.0006-607423.0009) in 5 patients from 4 unrelated families with a milder form of WWS, referred to as 'congenital muscular dystrophy plus impaired intellectual development' (MDDGB1; 613155). Van Reeuwijk et al. (2006) also identified 7 novel mutations in the POMT1 gene in 7 unrelated patients with classic WWS.
In 3 unrelated patients with a severe form of congenital muscular dystrophy, D'Amico et al. (2006) identified compound heterozygous mutations in the POMT1 gene (607423.0010-607423.0014). None had structural brain abnormalities.
Bouchet et al. (2007) identified mutations in the POMT1 gene in 13 (32%) of 41 families in which at least 1 fetus had severe cobblestone cortex (type II lissencephaly), as observed in patients with WWS. The minimum diagnostic criteria included hydrocephalus, agyria, thickened leptomeninges filled with neuroglial ectopia, disorganized cortical ribbon, and cerebellar dysplasia. Mutations in the POMGNT1 (606822) and POMT2 (607439) genes were identified in 6 (15%) and 3 (7%) families, respectively. Overall, mutations were identified in 22 of 41 families included in the study. Definitive pathogenic mutations were not identified in the FKRP (606596), FKTN (607440), or LARGE (603590) genes.
Godfrey et al. (2007) identified POMT1 mutations in 8 of 92 patients with evidence of a muscular dystrophy due to defective glycosylation of alpha-dystroglycan (DAG1; 128239). One patient had WWS, 1 had MEB (607423.0015), 3 had congenital muscular dystrophy, and 3 had limb-girdle muscular dystrophy. All had low IQ and about half had structural brain abnormalities.
Mercuri et al. (2009) identified POMT1 mutations in 17 (21%) of 81 Italian patients with a dystroglycanopathy. Thirteen patients had muscular dystrophy, 2 had MEB, and 2 had WWS. Six patients had a normal MRI, 1 of whom had a severe dilated cardiomyopathy. All but 1 had mental retardation and microcephaly. No clear-cut genotype-phenotype correlations were observed; however, the more severe phenotypes appeared to be associated with mutations predicted to result in severe disruption of the gene.
Willer et al. (2004) found that during embryogenesis, the mouse Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. They noted that these sites of expression correlate with those in which the main tissue alterations are observed in patients with Walker-Warburg syndrome. Willer et al. (2004) inactivated a Pomt1 allele by gene targeting in mouse embryonic stem cells and produced chimeras transmitting the defect allele to offspring. Although heterozygous mice were viable and fertile, the total absence of homozygous Pomt1 -/- pups among the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal. Analysis of the mutant phenotype revealed that homozygous null mice suffered developmental arrest around embryonic day (E) 7.5 and died between E7.5 and E9.5. The Pomt1 -/- embryos presented defects in the formation of the Reichert membrane, the first basement membrane to form in the embryo. The Reichert membrane is a thick multilayered membrane between the parietal endoderm cells and the trophoblast cells of rodents; it is thought to function to allow free access of nutrients to the embryo while excluding maternal cells (Salamat et al., 1995). The failure of this membrane to form in the Pomt1 -/- embryos appeared to be the result of abnormal glycosylation and maturation of dystroglycan that may impair recruitment of laminin (see 150320), a structural component required for the formation of Reichert membrane in rodents. Willer et al. (2004) concluded that the targeted disruption of Pomt1 in mouse represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis.
In a family with Walker-Warburg syndrome (MDDGA1; 236670), previously reported by Cormand et al. (2001), Beltran-Valero de Bernabe et al. (2002) identified a homozygous transition, 226G-A, in exon 3 of the POMT1 gene, predicting a gly76-to-arg (G76R) substitution. The parents were first cousins of Turkish origin. After 3 spontaneous abortions, a male was born presenting with severe hydrocephalus with dilatation of the third and fourth ventricles and minimal cortical development, no visible gyri, bifid cerebellum, and hypoplasia of the vermis and of the cerebellar hemispheres. A cerebellar cyst was observed. The corpus callosum appeared to be present. Microphthalmia on the left and exophthalmia on the right were noted. The genitalia were hypoplastic. Serum creatine kinase levels were highly elevated at more than 2,000 U/l. The patient died at age 7 months. Another affected child, whose DNA was used for genetic analysis, died 15 minutes after birth. She presented with severe hydrocephaly, encephalocele, and bilateral cleft lip.
In affected members of 2 families of Turkish origin with Walker-Warburg syndrome (MDDGA1; 236670), previously reported by Cormand et al. (2001), Beltran-Valero de Bernabe et al. (2002) identified homozygosity for a 907C-T transition in exon 9 of the POMT1 gene, resulting in a gln303-to-ter (Q303X) substitution. Both families were consanguineous. In 1 family, 3 sibs had WWS: a girl who died at age 3 years and 2 fetuses. The deceased girl had cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, and retinal dysplasia. Serum creatine kinase was increased. One fetus had an encephalocele. In the second family, there was 1 affected girl who died at age 2 months. She presented with severe hydrocephalic ventricular dilatation, hypoplasia of vermis and cerebellum, cyst formation in the posterior fossa, and a Dandy-Walker-like malformation. Eye malformations included bilateral buphthalmos, bilateral glaucoma, and hypertelorism. Serum CK levels were significantly increased.
In a nonconsanguineous Italian family with Walker-Warburg syndrome (MDDGA1; 236670), Beltran-Valero de Bernabe et al. (2002) identified homozygosity for a frameshift mutation, 2110insG, in exon 20 of the POMT1 gene, which was predicted to cause a replacement of 44 highly conserved C-terminal amino acids by 26 irrelevant ones following val703.
Messina et al. (2008) and Mercuri et al. (2009) referred to this mutation as 2111insG, resulting in a frameshift (Ala704GlyfsTer27).
In a Japanese boy with Walker-Warburg syndrome (MDDGA1; 236670), Kim et al. (2004) identified a homozygous 3-bp deletion (1260delCCT) in the POMT1 gene, resulting in the deletion of a highly conserved leucine at codon 421. The mutation was not identified in 100 Japanese controls. Prenatal studies showed a meningoencephalocele. At birth, the boy showed hypotonia, hydrocephalus, mild microphthalmia, and corneal clouding. Serum creatine kinase levels were markedly elevated to 600 to 31,000 IU/L. He had markedly delayed milestones, with inability to control his head, roll over, or sit. Brain MRI showed agyric frontal and temporo-occipital lobes mixed with pachygyric parietal cortex, as well as hypoplasia of the brainstem and cerebellum. Muscle biopsy showed marked increase in fatty tissue with evidence of necrosis and regeneration, hypoglycosylation of alpha-dystroglycan (DAG1; 128239), and defective laminin binding. Kim et al. (2004) noted that the patient showed exceptionally long survival for WWS, up to 3.5 years, and thus could be considered to have an intermediate phenotype between WWS and muscle-eye-brain disease; however, the presence of a meningoencephalocele was more consistent with WWS.
In 5 unrelated Turkish patients with limb-girdle muscular dystrophy and mental retardation (MDDGC1; 609308), some of whom were described by Dincer et al. (2003), Balci et al. (2005) identified a homozygous 598G-C transversion in exon 7 of the POMT1 gene, resulting in an ala200-to-pro (A200P) substitution in a highly conserved residue in loop 4 of a cytoplasmic domain of the protein. All patients were born of consanguineous parents. The mutation was not identified in 212 control chromosomes. Balci et al. (2005) noted that A200P was the first reported POMT1 mutation within the cytoplasmic domain and that the phenotype associated with this mutation is significantly milder than Walker-Warburg syndrome (MDDGA1; 236670), which is caused by other POMT1 mutations (see, e.g., 607423.0001). Most significantly, none of the patients with the A200P mutation had structural brain abnormalities on imaging that would signify a cortical migration defect. Haplotype analysis indicated that A200P is a common founder mutation.
In 2 Italian sibs with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 193G-A transition, resulting in a gly65-to-arg (G65R) substitution, and a 1746G-C transversion, resulting in a trp582-to-cys (W582C; 607423.0007) substitution. The G65R substitution occurs within the protein mannosyltransferase (PMT) domain but is not highly conserved, whereas the W582C substitution affects a highly conserved residue in the endoplasmic reticulum domain. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype observed in these patients, compared to those with Walker-Warburg syndrome (MDDGA1; 236670) was due to some residual POMT1 activity.
Mercuri et al. (2009) identified a homozygous G65R mutation in an Italian patient with POMT1-related muscular dystrophy, microcephaly, and mental retardation. Brain MRI was normal. The G65R mutation was found in compound heterozygosity with another POMT1 mutation in 4 additional patients with a similar phenotype, although some had cerebellar hypoplasia.
For discussion of the trp582-to-cys (W582C) mutation in the POMT1 gene that was found in compound heterozygous state in patients with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0006.
In an Italian patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 1540C-T transition, resulting in an arg514-to-ter (R514X) substitution in the 3-prime MIR region, and a 1770G-C transversion, resulting in gln590-to-his (Q590H; 607423.0009) substitution in a highly conserved residue. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype, compared to those with Walker-Warburg syndrome (MDDGA1; 236670), observed in this patient was due to some residual POMT1 activity.
For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155) by van Reeuwijk et al. (2006), see 607423.0008.
In 2 unrelated children with a severe form of muscular dystrophy (MDDGB1; 613155), D'Amico et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene. Both children had a gly64-to-arg (G65R) substitution in a moderately conserved residue, as well as another pathogenic POMT1 mutation, R541X (607423.0011) and Q590H (607423.0012), respectively.
For discussion of the arg541-to-ter (R541X) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0010.
For discussion of the gln590-to-his (Q590H) mutation in the POMT1 gene that was found in compound heterozygous state in patients with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0010.
In a patient with a severe form of muscular dystrophy (MDDGB1; 613155), D'Amico et al. (2006) identified compound heterozygosity for an ala669-to-thr (A669T) substitution in a transmembrane domain and a splice site mutation (607423.0014) in the POMT1 gene. Bello et al. (2012) reported that this patient developed cardiomyopathy with moderate left ventricular dysfunction at age 17 years.
For discussion of the splice site mutation in the POMT1 gene that was found in compound heterozygous state in a patient with a severe form of muscular dystrophy (MDDGB1; 613155) by D'Amico et al. (2006), see 607423.0013.
In a patient with muscle-eye-brain disease (MDDGA1; 236670), Godfrey et al. (2007) identified a homozygous 2-bp deletion in the POMT1 gene (2179delTC), predicted to result in a frameshift. Although clinical details were limited, the patient had prenatal onset, increased serum creatine kinase, contractures, congenital glaucoma, microcephaly, and low IQ. Brain MRI showed hydrocephalus, brainstem involvement, white matter abnormalities, cerebellar hypoplasia, and cerebellar cysts.
In an Italian patient with muscle-eye-brain disease (MDDGA1; 236670), Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 3-bp deletion (418delATG) and a 1-bp duplication (2167dupG; 607423.0018). The mutations were predicted to result in a deletion of met140 and a frameshift, respectively. Although clinical details were limited, the patient had microcephaly, mental retardation, myopia, and seizures, achieved sitting only, and had significantly increased serum creatine kinase with decreased alpha-dystroglycan staining on muscle biopsy.
For discussion of the 1-bp duplication in the POMT1 gene (2167dupG) that was found in compound heterozygous state in a patient with muscle-eye-brain disease (MDDGA1; 236670) by Mercuri et al. (2009), see 607423.0017.
In a 20-year-old man with limb-girdle muscular dystrophy (MDDGC1; 609308), Bello et al. (2012) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 430A-G transition resulting in an asn144-to-asp (N144D) substitution at a conserved residue in a transmembrane helix, and a 1241C-T transition resulting in a thr414-to-met (T414M; 607423.0020) substitution at a conserved residue in an MIR domain. Neither mutation was found in 110 control chromosomes. Both mutations were predicted to be destabilizing or pathogenic. The patient had normal psychomotor development, mild cognitive impairment, and proximal muscle weakness, and developed cardiomyopathy at age 12 years.
For discussion of the thr414-to-met (T414M) mutation in the POMT1 gene that was found in compound heterozygous state in a patient with limb-girdle muscular dystrophy (MDDGC1; 609308) by Bello et al. (2012), see 607423.0019.
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