Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Ravn, Kirstine; Roende, Gitte; Duno, Morten; Fuglsang, Kathrine; Eiklid, Kristin L; Tümer, Zeynep; Nielsen, Jytte B; Skjeldal, Ola H

doi:10.1186/1750-1172-6-58

Orphanet Journal of Rare Diseases

Table 3 Families with RTT in females and MECP2 mutation carrier females without RTT

From: Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

MECP2 Mutation	Phenotype male	Phenotype Female	Phenotype Mother	Rf
Families with RTT in females
p.R106W c.316C > T		Two half sisters Classic RTT	Asympt. mutation negative	[15]
p.T158M c.473C > T	Congenital encephalopathy	Classic RTT	Asympt. mutation carrier, SXCI	[14]
p.R133C c.397C > T	RTT variant	Classic RTT	Mild MR, mutation carrier, SXCI	[13]
p.S134C c.401C > G	RTT variant	RTT variant, random XCI	Asympt. mutation carrier, SXCI	[11]
P.R168X c.502C > T		Two sisters Classic RTT	Asympt. mutation carrier, SXCI	[16]
p.V288X c.806delG	Congenital encephalopathy	Three females Mother; mild MR, SXCI Maternal sister; classic RTT Daughter; classic RTT	Grandmother; Asympt., mutation negative, random XCI	[16]
p.G163fs c.488_489del	Congenital encephalopathy	Classic RTT	Asympt. mutation negative	[12]
p.G252fs c.754insC	Congenital encephalopathy	Classic RTT	Asympt. mutation negative	[17]
p.L386fs c.1157_1197del41		Two sisters Classic RTT, random XCI RTT Variant, random XCI	Mild MR, mutation carrier, SXCI	Present case
p.P387fs c.1159_delCCinsT	RTT variant	Two sisters RTT Variant, random XCI Mild MR, SXCI	Mild MR, mutation?, random XCI	Present case
p.P388fs c.1164_1207del44	Two males Uncle and nephew RTT variants	Two females Mother mild MR, SXCI Daughter classic RTT	Grandmother, mild MR, mutation carrier, SXCI	[10]
g.58483_65650del; g.65664_66958del	Congenital encephalopathy	Classic RTT	Mild MR, mutation carrier, SXCI	[30]
*MECP2* mutation carrier females without RTT
p.T158M c.473C > T	Two brothers Congenital encephalopathy		Asympt. mutation carrier, SXCI	[31]
p.P322S c.964C > T	RTT variant		Mild MR, mutation carrier, random XCI	[32]
p.P380fs c.1140del86	Two brothers MR, neurologic symptoms, dimorphic features		Asympt. mutation carrier, XCI not available	[28]
p.P384fs c.1154del32	Congenital encephalopathy		Asympt. mutation carrier, SXCI	[26]
p.L386fs c.1158del44	RTT variant		Asympt. mutation carrier, SXCI	[27]

MR, presented with mental retardation; SXCI, Skewed X chromosome inactivation
All nucleotides were numbered according to NCBI Reference Sequence: NM_004992.3

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ISSN: 1750-1172

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