Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions

Molecular syndromology

article

Akalın, Akçahan¹  Şimşek-Kiper, Pelin Ö.¹  Taşkıran, Ekim²  Utine, Gülen E.¹  Boduroğlu, Koray¹ 

[1]Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine

[2]Department of Medical Genetics, Hacettepe University Faculty of Medicine

关键词: 3M syndrome;    CUL7 gene;    Short stature;    Developmental delay;    Sensorineural hearing loss;   

DOI  :  10.1159/000524703

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Introduction: 3M syndrome is an autosomal recessive disorder characterized by characteristic facial features, severe pre- and postnatal growth restriction (<–4 SDS), and normal mental development. 3M syndrome is genetically heterogeneous. Up to date, causative mutations have been demonstrated in 3 genes, cullin-7 (CUL7), obscurin-like 1 (OBSL1), and coiled coil domain containing protein 8 (CCDC8). Case presentation: Here, we report a patient who was referred to our clinic due to short stature and developmental delay. Physical examination revealed prenatal onset short stature, low birth weight, and normal head circumference. She displayed several dysmorphic facial features in addition to developmental delay and bilateral sensorineural hearing loss. The physical findings were suggestive of 3M syndrome. Genetic assessment revealed a novel homozygous frameshift c.418_419delAC (p.Thr140Cysfs*11) variant in the CUL7A (p.Cys314Ter) variant in the ILDR1 gene. The parents were heterozygous for the same variant. Discussion: 3M syndrome should be considered in the differential diagnosis of patients with short stature and typical facial features even if in the presence of other inconsistent features such as developmental delay. In addition, it is important to take into account the co-occurrence of rare autosomal recessive genetic disorders especially in countries with a high consanguineous marriage rate.

【 授权许可】

CC BY