Table 4.

Multiple compound heterozygous mutations identified in a subject with multiplex RP

Subject	Dx	Disease-causing gene	Other genes	Nucleotide change	Protein change	dbSNP	Reference
JB40	Multiplex RP	Unknown	RPGRIP1L	c.685G>A	p.Ala229Thr	rs61747071	Khanna et al (2009)24
			RPGRIP1L	c.2952G>C	p.Gln984His	rs775144757
			RPGRIP1L	c.196C>A	p.Gln66Lys	rs751444506
			CDH23	c.1096G>A	p.Ala366Thr	rs143282422	Ouyang et al (2005)91
			CDH23	c.3293A>G	p.Asn1098Ser	rs41281310	Oshima et al (2008)97
			FAM161A	c.977A>C	p.Lys326Thr	rs745318331
			GUCY2D	c.3247C>A	p.Leu1083Met	N/A
			USH2A	c.6713A>C	p.Glu2238Ala	rs41277212	Aller et al (2006)77
			USH2A	c.1434G>C	p.Glu478Asp	rs35730265	Seyedahmadi et al (2004)98

Notes: This family appears to have an unusually high number of recessive mutations rather than the single dominant mutation that was expected based on the family history. We were unable to perform segregation analysis. The CDH23 mutations and the RPGRIP1L mutations are the most likely to be pathogenic.

Abbreviations: dbSNP, database of single nucleotide polymorphisms; Dx, diagnosis; N/A, not applicable; RP, retinitis pigmentosa.