Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

Table 1

Genotype and phenotype data of individuals carrying a uniparental disomy or a de novo variant.

Family ID

UPD/de novo

Locus gene

Paternal allele

Maternal allele

CMA nomenclature according to ISCN 2020

Inheritance (age at conception)

Age at last examination

RP

P

O

K

ID

C

D

Other

I.11_ALMS

UPD

2p13.1; ALMS1

c.6311_6321del, p.(Ile2104Thrfs6)

arr(2)x2 hmz pat

Pat. (32 y)

6 y

+

—

+

—

—

+

+

II.28_ALMS

UPD

2p13.1; ALMS1

c.3233C>G,; p.(Ser1078)

arr(2)x2 hmz mat

Mat. (39 y)

2 y

—

+

+

—

—

+

—

Micropenis 13th pair of ribs

XXX.28

UPD

16q13; BBS2

c.175C>T, p.(Gln59)

arr(16)x2 hmz pat

Pat. (34 y)

18 y

+

+

+

+

+

—

—

XXIV.3

UPD

4q27; BBS12

c.1893_1894del, p.(Pro632Phefs7)

arr(4)x2 hmz mat

Mat. (34 y)

2 y

—

+

—

+

+

—

—

XV.30

UPD

16p13.3; IFT140

c.3454-488_4182+2588dup, p.Tyr1152_Thr1394dup

arr[GRCh37] 16p13.3p13.13(105320_11030742)x2 hmz mat,16q23.1q24.3(74735148_90148796)x2 hmz mat

Mat. (23 y)

50 y

+

—

+

+

—

—

—

Short stature, brachydactyly, and tubulointerstitial nephritis

I.9_ALMS

de novo

2p13.1; ALMS1

c.10828C>T, p.(Gln3610)

c.11654_11657del, p.(Asn3885Argfs11)

Pat. (45 y)

17 y

+

—

+

—

—

—

+

Hypothyroidism

I.25_ALMS

de novo

2p13.1; ALMS1

c.286C>T, p.(Gln96)

c.1211C>G,; p.(Ser404)

Mat. (32 y)

14 y

+

—

—

—

—

+

+

II.2_ALMS

de novo

2p13.1; ALMS1

c.4714_4715dup, p.(Ser1573Thrfs25)

c.2822T>A,; p.(Leu941)

Pat. (29 y)

4 y

+

—

+

—

+

—

+

XIX.3

de novo

11q13.2; BBS1

c.1177C>T, p.(Arg393)

c.1169T>G,; p.(Met390Arg)

Pat. (31 y)

Fetus

—

+

+†

+

—

—

—

XVIII.23

de novo

15q24.1; BBS4

c.883C>T, p.(Arg295)

c.220G>A,; p.(Ala74Thr)

Pat. (28 y)

26 y

+

+

+

—

+

—

—

De novo variants are in bold. †Growth parameters >95 percentile. Abbreviations: CMA: chromosomal microarray; Pat.: paternal; Mat.: maternal; y: years; RP: retinitis pigmentosa; P: polydactyly; O: obesity; K: kidney anomaly; ID: intellectual disability; C: cardiomyopathy; D: deafness.