Cri-Du-Chat/SOTOS Combination LPU013 - Detail

Cri-Du-Chat syndrome consists of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants. It is associated with deletions, which vary in size, of part of the short arm of chromosome 51.

The estimated prevalence varies between 1 in 20,000 to 1 in 50,000 births². A critical chromosomal region involved in the high-pitched cry is mapped to proximal 5p15.³, while the region involved in the remaining features of the syndrome mapped to 5p15.23,^4,5.

SOTOS syndrome is a neurological disorder characterised by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development⁶. Malignant tumor formation was also reported to be associated with SOTOS syndrome⁷. NSD1, which encodes a histone methyltransferease implicated in chromatin regulation⁸, was identified as the gene disrupted by the 5q35 breakpoint and its haploinsufficiency is the major cause of SOTOS⁹.

Reference:/Bibliographie/Literatur/Bibliografia

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2. Niebuhr E., et al (1978) Hum Genet 44: 227-275
3. Cerruti Mainardi P., et al (2001) J Med Genet 38: 151-158
4. Overhauser J., et al (1994) Hum Molec Genet 3:247-252
5. Wu Q., et al (2005) Eur J Hum Genet 13: 475-485
6. Cole T.R.P. and Hughes H.E., (1994) J Med Genet 31: 20-32
7. Maldonado V., et al (1984) Am J Dis Child 138:486-488
8. Tatton-Brown K. and Rahman N., (2007) Eur J Hum Genet 15:264-271
9. Kurotaki N., et al (2002) Nat Genet 30: 365-366