Title | A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Madan, S, Liu, W, Lu, JT, V Sutton, R, Toth, B, Joe, P, Waterson, JR, Gibbs, RA, Van den Veyver, IB, Lammer, EJ, Campeau, PM, Lee, BH |
Journal | Mol Genet Metab Rep |
Volume | 12 |
Pagination | 57-61 |
Date Published | 2017 Sep |
ISSN | 2214-4269 |
Abstract | 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. |
DOI | 10.1016/j.ymgmr.2017.06.002 |
Alternate Journal | Mol Genet Metab Rep |
PubMed ID | 28626639 |
PubMed Central ID | PMC5466597 |
Grant List | P01 HD022657 / HD / NICHD NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States P30 HD024064 / HD / NICHD NIH HHS / United States F30 MH098571 / MH / NIMH NIH HHS / United States P01 HD070394 / HD / NICHD NIH HHS / United States |