A novel nonsense variant in MED12 associated with malformations in a female fetus

TY - JOUR

T1 - A novel nonsense variant in MED12 associated with malformations in a female fetus

AU - Faergeman, Soren Lejsted

AU - Becher, Naja

AU - Andreasen, Lotte

AU - Christiansen, Marianne

AU - Frost, Lise

AU - Vogel, Ida

N1 - © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

PY - 2021/12

Y1 - 2021/12

N2 - Pathogenic variants in the MED12 gene located on the X-chromosome have primarily been reported in males with Lujan-Fryns syndrome, Ohdo syndrome and the Opits-Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that MED12 deficiency causes severe malformations. We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio-exome sequencing. This finding further expands the clinical spectrum of MED12-related disorders, which is vital for prenatal diagnosis and genetic counselling of couples.

AB - Pathogenic variants in the MED12 gene located on the X-chromosome have primarily been reported in males with Lujan-Fryns syndrome, Ohdo syndrome and the Opits-Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that MED12 deficiency causes severe malformations. We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio-exome sequencing. This finding further expands the clinical spectrum of MED12-related disorders, which is vital for prenatal diagnosis and genetic counselling of couples.

UR - http://www.scopus.com/inward/record.url?scp=85121670886&partnerID=8YFLogxK

U2 - 10.1002/ccr3.5124

DO - 10.1002/ccr3.5124

M3 - Journal article

C2 - 34987808

AN - SCOPUS:85121670886

SN - 2050-0904

VL - 9

SP - e05124

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 12

M1 - e05124

ER -