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. 2020 May 28;182(8):1952–1956. doi: 10.1002/ajmg.a.61632

TABLE 1.

Clinical features of previously reported cases and cases reported in this article

Previously reported Reported in this article
Individual 1 a 2 a 3 a 4 b 5 b 6 (II‐3) 7 (II‐4) 8 (II‐5)
RNPC3 variants

c.1320C > A p.P474T;

c.1504C > T p.R502X

c.613C > T p.R205X;

c.1420C > A p.P474T

c.259C > T p.(Q87X);

c.443G > C p.(G148A)
Height (SDS) −5.9 −5.0 −6.7 −5 −9

−7.4

(age 7 months)

−6.5 (age 10 months)

−6.7

(age 9 months)
GH deficiency + + + + + + NA +
Delayed bone maturation + + + + + + + NA
Prolactin level Low normal Low normal Low normal NR NR ↓↓ ↓↓ ↓↓
Central hypothyroidism − − − − − + + +
Puberty Normal Delayed Delayed NR NR Delayed Delayed Delayed
DD and/or ID − − − NR NR + + +
Brain anomalies Hypoplasia of AP Hypoplasia of AP Hypoplasia of AP NR NR NA NA NA
Eye problems NR NR NR NR NR Congenital cataract Congenital cataract Congenital cataract
a

Argente et al. (2014).

b

Guceva et al. (2015).

Abbreviations: ↓↓, almost undetectable; AP, anterior pituitary; DD, developmental delay; GH, growth hormone; ID, intellectual disability; NA, not assessed; NR, not reported; SDS, standard deviation score.