Two male sibs with severe micrognathia and a missense variant in MED12
Trine E. Prescott , Mari Ann Kulseth , Ketil R. Heimdal , Barbro Stadheim , Einar Hopp , Tomasz Gambin , Zeynep H. Coban Akdemir , Shalini N. Jhangiani , Donna M. Muzny , Richard A. Gibbs , James R. Lupski , Asbjørg Stray-Pedersen
Abstract
Missense variants in MED12 cause three partially overlapping dysmorphic X-linked intellectual disability (XLID) syndromes: Lujan-Fryns syndrome (also known as Lujan syndrome), FG syndrome (also known as Opitz-Kaveggia syndrome) and X-linked Ohdo syndrome. We report a family with two severely micrognathic male sibs, a 10½ year old boy and a fetus, in which hemizygosity for a previously unreported missense variant in exon 13 of MED12 (NM_005120.2), c.1862G > A, p.(Arg621Gln) was detected by whole exome sequencing. The affected sibs shared no other rare variant with relevance to the phenotype. X-chromosome inactivation in blood was completely skewed (100:0) in the unaffected heterozygous mother, most likely as a result of preferential inactivation of the X-chromosome harbouring the missense variant in MED12. Neither the unaffected brother nor the unaffected maternal grandfather carried the missense variant in MED12. In the 10½ year old boy, upper airway obstruction secondary to Pierre Robin sequence necessitated a tracheostomy for the first 10 months of life. He has mild to moderate intellectual disability and some dysmorphic features seen in MED12-related syndromes. In addition, he has a horizontal gaze paresis, anomalies of the inner ear, and a cervical block vertebra. This report contributes to the expanding phenotypic range associated with MED12-mutations.Author | |||||
Journal series | European Journal of Medical Genetics, ISSN 1769-7212, (A 20 pkt) | ||||
Issue year | 2016 | ||||
Vol | 59 | ||||
Pages | 367-372 | ||||
Publication size in sheets | 0.5 | ||||
ASJC Classification | ; ; | ||||
DOI | DOI:10.1016/j.ejmg.2016.06.001 | ||||
URL | http://dx.doi.org/10.1016/j.ejmg.2016.06.001 | ||||
Language | en angielski | ||||
File |
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Score (nominal) | 20 | ||||
Score | = 15.0, 04-09-2019, ArticleFromJournal = 20.0, 04-09-2019, ArticleFromJournal | ||||
Publication indicators | = 4; = 3; : 2016 = 0.903; : 2016 = 2.137 (2) - 2016=1.625 (5) | ||||
Citation count* | 7 (2019-12-13) |
* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.
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