The Yakuts in Siberia may inherit short stature. One of the causes is a mutation in CUL7. These patients may show features of the 3-M syndrome.
Gene: CUL7 (cullin 7)
Location: 6p21.1
Mutation: 4582insT
Mutations of CUL7 are involved in the 3-M syndrome which occurs in Yakuts.
Inheritance: autosomal recessive
Features of the syndrome in Yakuts:
(1) prenatal and postnatal growth retardation
(2) relatively large head
(3) normal intelligence
(4) high frequency of neonatal respiratory distress
(5) low frequency of tall vertebral bodies and slender tubular bones in X-rays
