Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Jung, Jiwon; Lee, Joo Hoon; Park, Young Seo; Seo, Go Hun; Keum, Changwon; Kang, Hee Gyung; Lee, Hajeong; Lee, Sang Koo; Lee, Sang Taek; Cho, Heeyeon; Lee, Beom Hee

doi:10.1186/s12920-021-01026-6

BMC Medical Genomics

Table 1 Clinical features and genetic alterations of the patients

From: Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

Pt No	Sex	Phenotype and symptoms	Age at WES (yr)	Renal function	Affected gene	Nucleotide change	Amino acid change	Inheritance	ACMG classification	Reference	Incidence (number of pts)
1	F	Renal insufficiency with hyperuricemic crisis, family history of ESRD of unknown etiology	59	ESRD	UMOD	c.626G > T	p.Gly209Val	AD	LP	New ^†	unknown
2	M	Recurrent ureter stone since the age of 30 with renal insufficiency	41	ESRD	APRT	c.G294A	p.Trp98*	AR	P	[14]	Unknown, 1/5000–1/10000
3	F	Dysmorphic face with cleft palate, short stature, scoliosis, microscopic hematuria with renal insufficiency from glomerular mesangiolysis	20	CKD Stage2	MAF	c.185C > T	p.Thr62Met	AD	P	New^†	up to 21
4	M	ESRD at 4 years old with unknown etiology, short stature with a narrow chest, dense skull, family history of same clinical phenotype	18	ESRD	IFT140	c.2650C > T c.4309G > A	p.Arg884Trp p.Glu1437Lys	AR	VUS VUS	Found in the general population	up to 20
5	M	Early-onset renal insufficiency with small kidneys	11	CKD Stage 3	PAX2	c.124_139del	p.Val42Argfs*36	AD	P	New^†	up to 60
6	M	Early-onset renal insufficiency with small kidneys	10	CKD Stage 2	PAX2	c.686-1G > T	Splice site variant	AD	P	New^†	up to 60
7	F	Nephrocalcinosis, hypercalciuria with persistent nephrocalcinosis	9	Normal	CYP24A1	c.376C > T	p.Pro126Ser	AR	VUS	New^†	unknown
8	F	Neonatal hypocalcemia, hypomagnesemia with tetany	7	Normal	TRPM6	c.1421A > G c.4917_4918delAA	p.Tyr474Cys p.Lys1639Ansfs*4	AR	LP P	New^†	unknown
9	F	Both renal hypoplasia with multiple cysts, anuria after 17 days of birth	0.2	ESRD	PAX2	c.76dupG	p.Val26Glyfs*28	AD	P	[20]	up to 60

Pt, patient; WES, whole-exome sequencing; Ref, reference; AR, autosomal recessive; AD, autosomal dominant; ESRD, end-stage renal disease; CKD, chronic kidney disease; ACMG, American College of Medical Genetics and Genomics; LP, likely pathogenic; P, pathogenic; VUS, variant of unknown significance
^*Nonsense mutation
^†Variant was not found in NCBI (National Center for Biotechnology Information, https://www.ncbi.nlm.nih.gov), gnomAD (Genome Aggregation Database, https://gnomad.broadinstitute.org), UCSC Genome Browser (University of California, Santa Cruz Genome Browser, https://genome.ucsc.edu), or HGMD (The Human Gene Mutation Database, http://www.hgmd.cf.ac.uk)

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ISSN: 1755-8794

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