A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Mol Genet Metab Rep 2017 Sep 7;12:57-61. Epub 2017 Jun 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Mutations in the gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to post-zygotic mutations in the gene. There is only one previous report of a surviving male with an inherited mutation in the gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH. A novel mutation (p.Ser250Phe) was identified in a non-mosaic, hemizygous state in one of the siblings who survived to 8 years of age. The mother is a heterozygous carrier, has a random X-inactivation pattern and is asymptomatic. Findings unusual for FDH include dysplastic clavicles and bilateral Tessier IV facial clefts. This is the second case report of a non-mosaic mutation in a male individual with multiple congenital anomalies. While the pathogenicity of this mutation remains to be further investigated, the survival of a male with a non-mosaic mutation in is suggestive of a functionally mild mutation leading to an X-linked recessive mode of inheritance.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2017.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466597PMC
September 2017
26 Reads

Publication Analysis

Top Keywords

non-mosaic mutation
12
focal dermal
8
dermal hypoplasia
8
mutations gene
8
congenital anomalies
8
fdh include
8
mutation male
8
male
6
mutation
6
non-mosaic
5
fdh
5
pser250phe identified
4
identified non-mosaic
4
hemizygous state
4
non-mosaic hemizygous
4
state siblings
4
random x-inactivation
4
age mother
4
mother heterozygous
4
heterozygous carrier
4

Similar Publications