Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

Riazuddin, Saima; Ahmed, Zubair M; Hegde, Rashmi S; Khan, Shaheen N; Nasir, Idrees; Shaukat, Uzma; Riazuddin, Sheikh; Butman, John A; Griffith, Andrew J; Friedman, Thomas B; Choi, Byung Yoon

doi:10.1186/1471-2350-12-21

BMC Medical Genetics

Table 1 Summary of clinical findings of individuals carrying homozygous FGF3 mutations

From: Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

Family No.	Ethnicity	Subject No.	Sex	Type I microtia	Microdontia with conical teeth	CT or MRI findings of inner ear	Nucleotide change ^b	Effect ^b	Reference
PKDF 817	Pakistani	V:1	M	Normal	+	Bi-CLA	c.283C > T	p.R95W	[16]
		V:3	M	Normal	+	Rt-dysplastic SCC, bony IAC(+), single cochleovestibular nerve Lt-One and a half turn of cochlea, short broad cystic LSC confluent with the vestibule, bony IAC(+)
		V:4	F	Normal	+	Bi-CLA
		V:5	F	Normal	+	Not available
		V:7	M	Normal	+	Rt-Reminiscent of cochlear basal turn, Lt-CLA
		V:8	M	Normal	Equivocal	Bi-CLA
		V:10	F	Normal	Equivocal	Bi-CLA
PKDF 295	Pakistani	IV:1	F	+	+	Bi-CLA Bi- Subarachnoid cyst	c.310C > T	p.R104X	[9]
		IV:2	M	+	+	Bi-CLA Bi- Subarachnoid cyst
		IV:7	M	+^a	+^a	Not available
		IV:8	M	+^a	+^a	Not available
PKDF 887	Pakistani	IV:2	M	+	+	Bi-CLA Bi-Subarachnoidal cyst	c.394delC	p.R132GfsX26	this study
		IV:3	M	+	+	Bi-CLA Bi- Subarachnoid cyst
		IV:4	F	+^a	+^a	Not available
Somali family	Somali	3	F	+	+	Rt- One and a half turn of cochlea, Lt-CLA	c.283C > T*	p.R95W	[16]
		5	M	+	+	Bi-CLA
		7	F	Normal	+	Rt-CLA Lt-Common cavity
		8	F	+	+	Bi-CLA
1	Turkish	1	F	+	+	Bi-CLA	c.255delT	p.I85MfsX15	[10]
2	Turkish	IV:1	F	+	+	Lt-CLA, Rt-Rudimentary cystic vestibule, but no bony IAC Bi-Subarachnoid cyst	c.17T > C	p.L6P	[10]
		IV:2	M	+	+	Bi-CLA
		IV:3	M	+	+	Bi-CLA
3	Turkish	1	M	+	+	Bi-CLA	c.466T > C	p.S156P	[9]
		2	M	+	+	Bi-CLA
		3	M	+	+	Bi-CLA
		4	M	+	+	Bi-CLA
		5	F	+	+	Bi-CLA
4	Turkish	1	M	+	+	Bi-CLA	c.310C > T	p.R104X	[9]
		2	M	+	+	Bi-CLA
		3	M	+	+	Bi-CLA
5	Turkish	1	F	+	+	Bi-CLA	c.616delG	p.V206SfsX13	[9]
1	Saudi	VI:8	F	+	+	Rt-CLA, Lt-rudimentary cystic vestibule, but no bony IAC	c.196G > T	p.G66C	[7]
		VI:9	M	+	+	Not available
		IV:3	M	+	+	Bi-CLA Bi- Subarachnoid cyst
		IV:4	F	+^a	+^a	Not available

^aInferred from observations by family members.
^bMutations numbered according to NM005247.2 (cDNA) and NP_005238 (protein).
*Ramsebner et al. (2009) reported this allele as c.284C > T, but the wild type nucleotide at 284 is a G.

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ISSN: 1471-2350

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