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Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Mar; Vol. 182 (3), pp. 536-542. Date of Electronic Publication: 2019 Dec 12. - Publication Year :
- 2020
-
Abstract
- Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). These disorders are very rare and have been previously reported in 10 affected individuals. We present two unrelated Lithuanian families with prenatally detected hydrocephalus due to a homozygous nonsense variant in the POMK. The first signs of hydrocephalus in the affected fetuses became evident at 15 weeks of gestation and rapidly progressed, thus these clinical features are compatible with a diagnosis of MDDGA12. The association between pathogenic POMK variants and macrocephaly and severe hydrocephalus has been previously reported only in two families. Clinical and molecular findings presented in this report highlight congenital hydrocephalus as a distinct feature of POMK related disorders and a differentiator from other dystroglycanopathies. These findings further extend the spectrum of MDDGA12 syndrome.<br /> (© 2019 Wiley Periodicals, Inc.)
- Subjects :
- Adult
Brain diagnostic imaging
Brain pathology
Codon, Nonsense genetics
Female
Homozygote
Humans
Infant, Newborn
Male
Muscular Dystrophies, Limb-Girdle diagnostic imaging
Muscular Dystrophies, Limb-Girdle pathology
Mutation genetics
Nervous System Malformations diagnostic imaging
Nervous System Malformations genetics
Nervous System Malformations pathology
Pedigree
Pregnancy
Ultrasonography, Prenatal
Muscular Dystrophies, Limb-Girdle diagnosis
Muscular Dystrophies, Limb-Girdle genetics
Nervous System Malformations diagnosis
Protein Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 182
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 31833209
- Full Text :
- https://doi.org/10.1002/ajmg.a.61453