a.

Published cases of inherited recessive mutations unmasked by hemizygosity due to a de novo deletion

Phenotype of proband	Unmasked gene	Gene location	SNV	Parental origin of SNV	Chromosomal location	Deletion size, Mb	Parental origin of de novo deletion	Reference
Prader-Willi syndrome; oculocutaneous albinism	OCA2	15q12-q13.1	p. Val443Ile; c. 1327G>A	mother is heterozygous carrier	del(15)(q11.2q13.1)	nd	paternal	Lee et al., 1994
VCF/DiGeorge syndrome; Bernard-Soulier syndrome	GP1BB	22q11.21	c. −133C>G	nd	del(22)(q11.2q11.2)	nd	nd	Ludlow et al., 1996
MR, retinoblastoma + Wilson disease	ATP7B	13q14.3	nd	maternal	del(13)(q14.2q21.1)	nd	paternal	Riley et al., 2001
Smith-Magenis syndrome; sensorineural hearing loss	MYO15A	17p11.2	p. Thr2205Ile; c. 6614C>T	mother is heterozygous carrier	del(17)(p11.2p11.2)	nd	paternal	Liburd et al., 2001
Angelman syndrome; oculocutaneous albinism	OCA2	15q12-q13.1	c. 647-?_807+?del (deletion of exon 7)	father is heterozygous carrier	del(15)(q11.2q13.1)	∼5	maternal	Fridman et al., 2003
Williams syndrome; chronic granulomatous disease	NCF1	7q11.23	p. Tyr26fs; c. 75-76del	nd	del(7)(q11.23q11.23)	nd	nd	Kabuki et al., 2003
Sotos syndrome; reduced coagulation factor 12 activity	F12	5q35.3	c. −4C>T (rs1801020)	nd	del(5)(q35.3q35.3)	2.2	nd	Kurotaki et al., 2005
22q11 del syndrome; psychotic disorder	COMT	22q11.21	p. Val158Met; c. 472G>A	nd	del(22)(q11.2q11.2)	nd	nd	Gothelf et al., 2005
Wolf-Hirschhorn syndrome; Wolfram syndrome	WFS1	4p16.1	p. Gln366X; c. 1096C>T	mother is heterozygous carrier	inv dup del(4) (:p15.33→p16.1::p16.1→qter)	8.3	paternal	Flipsen-ten Berg et al., 2007
22q13 del syndrome; metachromatic leukodystrophy	ARSA	22q13.33	p. Pro426Leu c. 1277C>T	nd	del(22)(q13.2qter).ish cgh dup(13)(q22qter)	∼8	nd	Bisgaard et al., 2009
Werner syndrome	WRN	8p12	p. Tyr57X; c. 171C>G	nd	del (8)(p12p12)	0.553	nd	Friedrich et al., 2010