A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Ali, Bassam R; Silhavy, Jennifer L; Akawi, Nadia A; Gleeson, Joseph G; Al-Gazali, Lihadh

doi:10.1186/1750-1172-7-27

Orphanet Journal of Rare Diseases

Table 1 Spectrum of phenotypes of KIF7 mutations: literature and present report

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Features	Putoux et al 2011												Dafinger et al 2011				Al-Gazali and Bakalinova 1997 And this report
	F1				F2	F3	F4	F5	F6	F7	F8	F9					IV1	IV2	IV4	IV9	IV19
	P1	P2	P3	P4									P1 (E1)	P2 (E2)	P3 (G1)	P4 (G2)	P1	P2	P3	P4	P5
Brain
Macrocephaly	-	-	-	-	-	+	+	+	+	+	-	+	?+	?+	?+	-	+	+	+	+	+
Agenesis/hypoplasia of CC	?	?	+	?	+	+	+	+	+	+	?+	+	+	-	-	-	+	+	+	+	+
Molar-tooth sign	-	-	+	-	+	+	+	+	-	+	+	+	+	+	+	+	+	+	+	+	+
Other brain anomalies	AC	AC	HC, ARC	HC	-	Temporalpachygyria [Abn.hypocampus]	Wide ventricle.	Wide ventricle hypomyel	Wide vent., poor frontal cortical development	-	Para-callosal cyst	-	-	-	-	-	Temporo-parietal atrophy
Facial
Frontal bossing	-	-	-	-	-	-	+	+	+	?+	-	-	+	+	-	-	+	+	+	+	+
Hypertelorism	-	-	-	-	?	?+	+	+	+	+	+	+	+	+	+	-	+	+	?	+	+
Depressed/Wide nasal bridge	-	-	-	-	+	+	+	+	+	+	?	?	?	?	?	?	+	+	+	+	+
Triangular mouth	-	-	-	-	-	-	-	-	-	-	-	-	+	+	-	-	-	+	+	+	+
Hands & Feet
Postaxial polydactyly hands	+	-	+	-	-	+	+	-	+	+	-	+	?+	-	-	-	-	-	-	-	-
Postaxial polydactyly feet	+	-	+	-	-	-	+	+	+	+	-	-	-	+	-	-	-	-	-	-	-
Periaxial polydactyly hands	-	-	-	-	-	-	-	-	-	-	-	-	?-	-	-	-	-	-	-	-	-
Periaxial polydactyly feet	+	+	-	+	-	-	-	+	+	-	+	+	-	-	-	-	-	-	-	-	-
Cutaneous syndatyly	-	-	-	-	-	-	-	+	-	-	-	-	-	-	-	-	+ mild webbing	-	-	-	-
Clinodactyly	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Spindle shaped fingers	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Skeletal
Pectus excavatum	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Genu valgum	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Prominent joints	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Epiphyseal dysplasia	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	+	+	+	+	+
Others
Mental retardation	NA	NA	NA	NA	+	+	+	+	+	+	+	+	+	+	+	+	V.mild	-	V.mild	V.mild	mild
KIF7 Mutation	Hom c.2896-2897del	Hom c.2896-2897del	Hom c.2896-2897del	Hom c.2896-2897del	Hom R154X	Hom c.1639-1640delinsT	Hom Q1001X	Hom R33X	Hom c.687delG	Hom c.587dupT	Hom c.2896-2897del	Hom c.233-234del	Hom c.217delG	Hom c.217delG	Het c.3986-3997del	Het c.811delG	Hom c.3179A>G	Hom c.3179A>G	Hom c.3179A>G	Hom c.3179A>G	Hom c.3179A>G

Anc- anencephaly.
Hdc- hydrocephaly.
Arhc- arhinocephaly.
NA- not applicable.

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ISSN: 1750-1172

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