PMC7687677_01
Growth chart of the patient 1 under GH and GnRH agonist treatment. The dot indicates the height measurement. The arrow marks the beginning of GH and GnRH treatment start or stop. GH, growth hormone; GnRH, gonadotropin-releasing hormone; MPH, mid-parental height.
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F1
He had no adverse events related with GnRH agonist treatment; moreover, his growth velocity did not decrease during treatment (Figure 1).
(A) Dysmorphic features of patient 1. Macrodontia of the upper central incisors, a dysmorphic face including prominent and high nasal bridge, anteverted nostrils, hypertelorism, long philtrum, and brachydactyly of both hands. (B) Dysmorphic features of patient 2. Macrodontia of the permanent upper central incisors; dysmorphic face features such as triangular face, thick eye lashes and eyebrows, prominent nasal bridge, long philtrum, and brachycephaly; and hand anomalies including brachydactyly and clinodactyly of the 5th finger.
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F2
At the time of referral, he had normal height (149 cm, 0.77 SDS) and weight (42 kg, -0.09 SDS), and showed macrodontia of the permanent upper central incisors; dysmorphic face features such as triangular face, thick eye lashes and eye brows, prominent nasal bridge, long philtrum, and brachycephaly; and hand anomalies including brachydactyly and clinodactyly of the 5th finger (Figure 2B).
PMC7687677_02
(A) Electropherograms of the patient 1 and his parents. A de novo heterozygous frameshift mutation at position 5889 (c.5889del) in the ANKRD11 gene was found in the patient 1 and was not inherited from his parents. (B) Electropherograms of the patient 2. A heterozygous single base pair duplication at position 3301 (c.3301 dup) in the ANKRD11 gene.
fgene-11-579805-g003.jpg
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F3
Whole exome sequencing (WES) was done, and a novel heterozygous variant, c3310dup, p. (Glu110GlyfsTer5) in ANKRD11 was identified (Figure 3B).
PMC7687677_03
(A) Dysmorphic features of patient 1. Macrodontia of the upper central incisors, a dysmorphic face including prominent and high nasal bridge, anteverted nostrils, hypertelorism, long philtrum, and brachydactyly of both hands. (B) Dysmorphic features of patient 2. Macrodontia of the permanent upper central incisors; dysmorphic face features such as triangular face, thick eye lashes and eyebrows, prominent nasal bridge, long philtrum, and brachycephaly; and hand anomalies including brachydactyly and clinodactyly of the 5th finger.
fgene-11-579805-g002.jpg
PMC7687677_03_fgene-11-579805-g002.jpg
F2
At the time of referral, he had normal height (149 cm, 0.77 SDS) and weight (42 kg, -0.09 SDS), and showed macrodontia of the permanent upper central incisors; dysmorphic face features such as triangular face, thick eye lashes and eye brows, prominent nasal bridge, long philtrum, and brachycephaly; and hand anomalies including brachydactyly and clinodactyly of the 5th finger (Figure 2B).
(A) Electropherograms of the patient 1 and his parents. A de novo heterozygous frameshift mutation at position 5889 (c.5889del) in the ANKRD11 gene was found in the patient 1 and was not inherited from his parents. (B) Electropherograms of the patient 2. A heterozygous single base pair duplication at position 3301 (c.3301 dup) in the ANKRD11 gene.
fgene-11-579805-g003.jpg
PMC7687677_03_fgene-11-579805-g003.jpg
F3
Whole exome sequencing (WES) was done, and a novel heterozygous variant, c3310dup, p. (Glu110GlyfsTer5) in ANKRD11 was identified (Figure 3B).
PMC7687677_04