3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy

Endocrinology, Diabetes & Metabolism Case Reports

article

A Deeb¹  O Afandi²  S Attia³  A El Fatih³ 

[1] Paediatric Endocrinology Department, Mafraq Hospital;Medical School, Gulf University;Biochemistry Laboratory Department, Shaikh Khalifa Medical Center, Mafraq Hospital

关键词: Paediatric;    Male;    Other;    United Arab Emirates;    Pituitary;    Pituitary;    GH;    Short stature;    3-M syndrome;    Short stature;    Skeletal deformity;    Slow growth;    Growth hormone deficiency;    Craniofacial abnormalities;    Respiratory failure;    Prenatal growth retardation;    Genetic analysis;    Bone age;    GH;    Genetics;    Unique/unexpected symptoms or presentations of a disease;    April;    2015;   

DOI  :  10.1530/EDM-15-0012

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

3-M syndrome is a rare autosomal recessive disorder caused by mutations in the CUL7, OBSL1 and CCDC8 genes. It is characterisedby growth failure, dysmorphic features and skeletal abnormalities. Data in the literature show variable efficacy of GH in thetreatment of short stature. We report four Emirati siblings with the condition. The index case is a 10-year-old boy withcharacteristic features, including prenatal and postnatal growth failure, a triangular face, a long philtrum, fulllips and prominentheels. Genetic testing confirmed a novel mutation (p.val88Ala) in the CUL7 gene. The parents are healthy, first-degree cousinswith nine children, of whom two died in the first year of life with respiratory failure. Both had low birth weight and growthretardation. The boy’s older sibling reached an adult height of 117 cm (K6.71 SDS). Shewas never treated with GH. Hewas startedon GH treatment at 7 years of age, when his height was 94 cm (K5.3 SDS). 3-M syndrome should be considered in children withshort stature who have associated dysmorphism and skeletal abnormalities. The diagnosis is more likely to occur in families thathave a history of consanguinity and more than one affected sibling. Death in early infancy due to respiratory failure is anotherclue to the diagnosis, which might have a variable phenotype within a family. Genetic testing is important for confirming thediagnosis and for genetic counselling. GH treatment might be beneficial in improving stature in affected children.

【 授权许可】

CC BY-NC-ND